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778048001: Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737505015 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737506019 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737507011 Maternally-inherited spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737508018 MT-ATP6-related mitochondrial spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737448011 A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) est un(e) (attribut) Mitochondrial cytopathy true Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) est un(e) (attribut) Chronic metabolic disorder true Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) est un(e) (attribut) Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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